Y12H (p.Tyr12His) variant of KCNJ3 (P48549)
Y12H (p.Tyr12His) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y12H (p.Tyr12His) variant details
- p.Tyr12His
- gnomAD 2-154698809-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.52
- CADD 23.80
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available