R153H (p.Arg153His) variant of VPS13C (Q709C8)
R153H (p.Arg153His) in VPS13C (Q709C8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R153H (p.Arg153His) variant details
- p.Arg153His
- rs12595158
- ClinGen CA7597516
- cosmic curated COSV51191
- ClinVar RCV001670764
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.00
- MetaSVM -1.09
- CADD 23.70
- ClinVar: Benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs12595158)
- UniProt: Benign (in dbSNP:rs12595158)
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.67)
- Structural context available