D31Y (p.Asp31Tyr) variant of KCNJ5 (P48544)
D31Y (p.Asp31Tyr) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D31Y (p.Asp31Tyr) variant details
- p.Asp31Tyr
- gnomAD 11-128911364-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.57
- MetaLR 0.76
- MetaSVM 0.67
- CADD 24.60
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available