A15V (p.Ala15Val) variant of GATA2 (P23769)
A15V (p.Ala15Val) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- cosmic curated COSV62005
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.74
- CADD 26.20
- PolyPhen-2 0.60
- SIFT 0.05
- Population evidence available
- Structural context available