P34T (p.Pro34Thr) variant of KCNJ5 (P48544)
P34T (p.Pro34Thr) 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.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- gnomAD 11-128911373-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.24
- MetaLR 0.64
- MetaSVM -0.66
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available