G6V (p.Gly6Val) variant of C2CD2L (O14523)
G6V (p.Gly6Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- TOPMed rs1247768512
- gnomAD rs1247768512
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available