M9V (p.Met9Val) variant of KCNJ5 (P48544)
M9V (p.Met9Val) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M9V (p.Met9Val) variant details
- p.Met9Val
- gnomAD 11-128911298-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.53
- MetaLR 0.72
- MetaSVM -0.25
- CADD 23.20
- PolyPhen-2 0.34
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available