A4V (p.Ala4Val) variant of MCCC1 (Q96RQ3)
A4V (p.Ala4Val) in MCCC1 (Q96RQ3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- NCI-TCGA Cosmic COSV9965
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.28
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available