R237H (p.Arg237His) variant of VPS35 (Q96QK1)
R237H (p.Arg237His) 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.
R237H (p.Arg237His) variant details
- p.Arg237His
- gnomAD rs1422601979
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.17
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available