V104A (p.Val104Ala) variant of KCNJ3 (P48549)
V104A (p.Val104Ala) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V104A (p.Val104Ala) variant details
- p.Val104Ala
- TOPMed rs1191234143
- gnomAD rs1191234143
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.40
- CADD 24.20
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available