T66S (p.Thr66Ser) variant of SLC12A3 (P55017)
T66S (p.Thr66Ser) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T66S (p.Thr66Ser) variant details
- p.Thr66Ser
- gnomAD 16-56865431-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- MetaLR 0.62
- MetaSVM -0.24
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.95
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available