N7D (p.Asn7Asp) variant of KCNJ5 (P48544)
N7D (p.Asn7Asp) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N7D (p.Asn7Asp) variant details
- p.Asn7Asp
- gnomAD 11-128911292-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.30
- MetaLR 0.51
- MetaSVM -0.53
- CADD 19.90
- PolyPhen-2 0.05
- SIFT 0.65
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available