L31V (p.Leu31Val) variant of MCCC2 (Q9HCC0)
L31V (p.Leu31Val) 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 and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- gnomAD rs1248946124
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.29
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available