R153L (p.Arg153Leu) variant of VPS13C (Q709C8)
R153L (p.Arg153Leu) in VPS13C (Q709C8) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes structural context.
R153L (p.Arg153Leu) variant details
- p.Arg153Leu
- cosmic curated COSV51128
- 1000Genomes rs12595158
- ESP rs12595158
- ExAC rs12595158
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.09
- MetaSVM -0.90
- CADD 24.30
- EBI: Benign (in dbSNP:rs12595158)
- UniProt: Benign (in dbSNP:rs12595158)
- Structural context available