L108V (p.Leu108Val) variant of MCCC1 (Q96RQ3)
L108V (p.Leu108Val) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L108V (p.Leu108Val) variant details
- p.Leu108Val
- TOPMed rs1163879867
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.89
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available