A27V (p.Ala27Val) variant of C9ORF72 (Q96LT7)
A27V (p.Ala27Val) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD rs1476251836
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.35
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available