M165V (p.Met165Val) variant of C9ORF72 (Q96LT7)
M165V (p.Met165Val) in C9ORF72 (Q96LT7) 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.
M165V (p.Met165Val) variant details
- p.Met165Val
- ESP rs370135790
- ExAC rs370135790
- TOPMed rs370135790
- gnomAD rs370135790
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.46
- SIFT 0.60
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available