A4G (p.Ala4Gly) variant of KIT (P10721)
A4G (p.Ala4Gly) in KIT (P10721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A4G (p.Ala4Gly) variant details
- p.Ala4Gly
- gnomAD 4-54658025-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.29
- CADD 24.10
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available