A69T (p.Ala69Thr) variant of VPS35 (Q96QK1)
A69T (p.Ala69Thr) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- gnomAD rs1966235127
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.22
- SIFT 0.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available