L39R (p.Leu39Arg) variant of C2CD2L (O14523)
L39R (p.Leu39Arg) 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 0.14 / 1. The record also includes population frequency data and structural context.
L39R (p.Leu39Arg) variant details
- p.Leu39Arg
- rs2497551408
- ClinGen CA382921903
- ClinVar RCV004090996
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available