T4A (p.Thr4Ala) variant of VPS35 (Q96QK1)
T4A (p.Thr4Ala) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- Ensembl rs1966266744
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.12
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available