A36S (p.Ala36Ser) variant of SLC12A1 (Q13621)
A36S (p.Ala36Ser) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- gnomAD 15-48207825-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.22
- MetaLR 0.47
- MetaSVM -0.58
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.98
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available