H30D (p.His30Asp) variant of SLC12A1 (Q13621)
H30D (p.His30Asp) in SLC12A1 (Q13621) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H30D (p.His30Asp) variant details
- p.His30Asp
- rs199719506
- ClinGen CA7546686
- ClinVar RCV002766216
- ClinVar RCV002775283
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.24
- MetaLR 0.42
- MetaSVM -0.71
- CADD 11.60
- PolyPhen-2 0.02
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- 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)