I113V (p.Ile113Val) variant of MCCC1 (Q96RQ3)
I113V (p.Ile113Val) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I113V (p.Ile113Val) variant details
- p.Ile113Val
- Ensembl rs1717917373
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.53
- CADD 23.20
- PolyPhen-2 0.54
- SIFT 0.13
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available