V18F (p.Val18Phe) variant of SLC12A2 (P55011)
V18F (p.Val18Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V18F (p.Val18Phe) variant details
- p.Val18Phe
- rs1025704186
- ClinGen CA126980083
- ClinVar RCV003084270
- ClinVar RCV003269445
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.25
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00024)
- 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)