N32S (p.Asn32Ser) variant of KCNJ2 (P63252)
N32S (p.Asn32Ser) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- gnomAD 17-70175134-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -1.04
- CADD 21.40
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available