A40G (p.Ala40Gly) variant of C2CD2L (O14523)
A40G (p.Ala40Gly) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- TOPMed rs944890402
- gnomAD rs944890402
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.3e-05)
- Structural context available