H131R (p.His131Arg) variant of VPS13C (Q709C8)
H131R (p.His131Arg) in VPS13C (Q709C8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H131R (p.His131Arg) variant details
- p.His131Arg
- rs200672130
- ClinGen CA7597549
- ClinVar RCV002913944
- 1000Genomes rs200672130
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.06
- MetaSVM -1.09
- CADD 15.99
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available