A3V (p.Ala3Val) variant of KCNJ3 (P48549)
A3V (p.Ala3Val) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD rs1354793156
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available