P123L (p.Pro123Leu) variant of VPS35 (Q96QK1)
P123L (p.Pro123Leu) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P123L (p.Pro123Leu) variant details
- p.Pro123Leu
- TOPMed rs1421508866
- gnomAD rs1421508866
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.13
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available