R41W (p.Arg41Trp) variant of C2CD2L (O14523)
R41W (p.Arg41Trp) in C2CD2L (O14523) is a missense change. 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.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- gnomAD rs1946627787
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available