V116A (p.Val116Ala) variant of MCCC1 (Q96RQ3)
V116A (p.Val116Ala) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V116A (p.Val116Ala) variant details
- p.Val116Ala
- gnomAD rs1246716621
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.73
- CADD 22.80
- PolyPhen-2 0.19
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available