S57N (p.Ser57Asn) variant of KCNJ5 (P48544)
S57N (p.Ser57Asn) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S57N (p.Ser57Asn) variant details
- p.Ser57Asn
- gnomAD 11-128911443-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.32
- MetaLR 0.35
- MetaSVM -0.62
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available