P281A (p.Pro281Ala) variant of VPS35 (Q96QK1)
P281A (p.Pro281Ala) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P281A (p.Pro281Ala) variant details
- p.Pro281Ala
- ExAC rs772459263
- gnomAD rs772459263
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.27
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available