A3V (p.Ala3Val) variant of MCCC1 (Q96RQ3)
A3V (p.Ala3Val) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- 1000Genomes rs572765608
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.26
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available