A31S (p.Ala31Ser) variant of C9ORF72 (Q96LT7)
A31S (p.Ala31Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- ExAC rs768123891
- TOPMed rs768123891
- gnomAD rs768123891
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.25
- CADD 21.60
- PolyPhen-2 0.19
- SIFT 0.31
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available