A2V (p.Ala2Val) variant of MCCC1 (Q96RQ3)
A2V (p.Ala2Val) in MCCC1 (Q96RQ3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD rs1260785519
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.28
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available