D17G (p.Asp17Gly) variant of VPS35 (Q96QK1)
D17G (p.Asp17Gly) in VPS35 (Q96QK1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10014
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.32
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available