I62T (p.Ile62Thr) variant of VPS13C (Q709C8)
I62T (p.Ile62Thr) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
I62T (p.Ile62Thr) variant details
- p.Ile62Thr
- Ensembl rs2140711853
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.82
- MetaSVM 0.87
- CADD 29.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available