D38H (p.Asp38His) variant of KCNJ5 (P48544)
D38H (p.Asp38His) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D38H (p.Asp38His) variant details
- p.Asp38His
- gnomAD 11-128911385-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.49
- MetaLR 0.72
- MetaSVM 0.37
- CADD 25.10
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available