S71F (p.Ser71Phe) variant of VPS35 (Q96QK1)
S71F (p.Ser71Phe) 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 0.53 / 1. The record also includes population frequency data and structural context.
S71F (p.Ser71Phe) variant details
- p.Ser71Phe
- rs754806601
- NCI-TCGA Cosmic COSV5447
- ExAC rs754806601
- gnomAD rs754806601
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.44
- CADD 24.20
- PolyPhen-2 0.77
- SIFT 0.96
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available