S61T (p.Ser61Thr) variant of SLC12A1 (Q13621)
S61T (p.Ser61Thr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S61T (p.Ser61Thr) variant details
- p.Ser61Thr
- gnomAD 15-48207901-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.37
- MetaLR 0.53
- MetaSVM 0.12
- CADD 21.60
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available