T3A (p.Thr3Ala) variant of VPS35 (Q96QK1)
T3A (p.Thr3Ala) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- ExAC rs774604183
- gnomAD rs774604183
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.11
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available