A18S (p.Ala18Ser) variant of MCCC2 (Q9HCC0)
A18S (p.Ala18Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 5-71587477-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.20
- CADD 5.13
- PolyPhen-2 0.01
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available