Q7R (p.Gln7Arg) variant of C2CD2L (O14523)
Q7R (p.Gln7Arg) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- gnomAD rs1192382271
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available