A40E (p.Ala40Glu) variant of C2CD2L (O14523)
A40E (p.Ala40Glu) 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.
A40E (p.Ala40Glu) variant details
- p.Ala40Glu
- TOPMed rs944890402
- gnomAD rs944890402
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available