D29V (p.Asp29Val) variant of STAG2 (Cohesin subunit SA-2)
D29V (p.Asp29Val) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D29V (p.Asp29Val) variant details
- p.Asp29Val
- gnomAD X-124025881-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.35
- CADD 24.20
- PolyPhen-2 0.78
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available