L125V (p.Leu125Val) variant of C9ORF72 (Q96LT7)
L125V (p.Leu125Val) in C9ORF72 (Q96LT7) 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.
L125V (p.Leu125Val) variant details
- p.Leu125Val
- ESP rs372541138
- TOPMed rs372541138
- gnomAD rs372541138
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.41
- CADD 23.90
- PolyPhen-2 0.95
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available