M9T (p.Met9Thr) variant of KCNJ5 (P48544)
M9T (p.Met9Thr) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M9T (p.Met9Thr) variant details
- p.Met9Thr
- gnomAD 11-128911299-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.53
- MetaLR 0.68
- MetaSVM -0.29
- CADD 22.80
- PolyPhen-2 0.37
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available