I136R (p.Ile136Arg) variant of VPS13C (Q709C8)
I136R (p.Ile136Arg) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I136R (p.Ile136Arg) variant details
- p.Ile136Arg
- Ensembl rs2047708279
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.33
- MetaLR 0.09
- MetaSVM -1.01
- CADD 23.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available