D2G (p.Asp2Gly) variant of C2CD2L (O14523)
D2G (p.Asp2Gly) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- gnomAD rs1312481924
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available