M13V (p.Met13Val) variant of KCNJ5 (P48544)
M13V (p.Met13Val) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M13V (p.Met13Val) variant details
- p.Met13Val
- gnomAD 11-128911310-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.26
- MetaLR 0.48
- MetaSVM -0.79
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available