P271L (p.Pro271Leu) variant of VPS35 (Q96QK1)
P271L (p.Pro271Leu) in VPS35 (Q96QK1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P271L (p.Pro271Leu) variant details
- p.Pro271Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.65
- CADD 29.20
- PolyPhen-2 0.92
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available