A26S (p.Ala26Ser) variant of SLC12A2 (P55011)
A26S (p.Ala26Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD 5-128084030-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.16
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available