Y137H (p.Tyr137His) variant of VPS13C (Q709C8)
Y137H (p.Tyr137His) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Y137H (p.Tyr137His) variant details
- p.Tyr137His
- gnomAD rs2047708185
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.14
- MetaSVM -0.88
- CADD 21.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available