G36R (p.Gly36Arg) variant of C2CD2L (O14523)
G36R (p.Gly36Arg) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- TOPMed rs1946627292
- gnomAD rs1946627292
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 23.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available