A22S (p.Ala22Ser) variant of MCCC2 (Q9HCC0)
A22S (p.Ala22Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- gnomAD 5-71587489-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.17
- CADD 4.91
- PolyPhen-2 0.00
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available