G14V (p.Gly14Val) variant of SLC12A2 (P55011)
G14V (p.Gly14Val) in SLC12A2 (P55011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Kilquist syndrome; Hearing loss, autosomal dominant 78. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- rs1014756958
- ClinGen CA126980063
- ClinVar RCV001907848
- ClinVar RCV002506912
- Uncertain significance
- Inborn genetic diseases; Kilquist syndrome; Hearing loss, autosomal dominant 78
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.22
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases; Kilquist syndrome; Hearing loss, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0014)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)