A29S (p.Ala29Ser) variant of MCCC2 (Q9HCC0)
A29S (p.Ala29Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- gnomAD 5-71587510-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.43
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available