A8S (p.Ala8Ser) variant of MCCC2 (Q9HCC0)
A8S (p.Ala8Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 5-71587447-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.33
- CADD 7.74
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available