S25T (p.Ser25Thr) variant of VPS13C (Q709C8)
S25T (p.Ser25Thr) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S25T (p.Ser25Thr) variant details
- p.Ser25Thr
- Ensembl rs1227718804
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.53
- ESM-1b 0.99
- AlphaMissense 0.18
- MetaLR 0.63
- MetaSVM 0.34
- CADD 26.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available