A8V (p.Ala8Val) variant of MCCC2 (Q9HCC0)
A8V (p.Ala8Val) 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.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD 5-71587448-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.28
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available