A12S (p.Ala12Ser) variant of SLC12A2 (P55011)
A12S (p.Ala12Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 5-128083988-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.22
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available