A6V (p.Ala6Val) variant of APP (Amyloid-beta precursor protein)
A6V (p.Ala6Val) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD rs2063726028
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.11
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available