W38C (p.Trp38Cys) variant of C2CD2L (O14523)
W38C (p.Trp38Cys) 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 0.35 / 1. The record also includes population frequency data and structural context.
W38C (p.Trp38Cys) variant details
- p.Trp38Cys
- TOPMed rs1477205603
- gnomAD rs1477205603
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.9e-05)
- Structural context available