V10L (p.Val10Leu) variant of C2CD2L (O14523)
V10L (p.Val10Leu) in C2CD2L (O14523) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
V10L (p.Val10Leu) variant details
- p.Val10Leu
- rs201351725
- ClinGen CA6314793
- ClinVar RCV004236757
- 1000Genomes rs201351725
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.86
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available