S35T (p.Ser35Thr) variant of KCNJ2 (P63252)
S35T (p.Ser35Thr) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S35T (p.Ser35Thr) variant details
- p.Ser35Thr
- ExAC rs762818989
- gnomAD rs762818989
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.33
- MetaLR 0.44
- MetaSVM -0.44
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.56
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available