G6E (p.Gly6Glu) variant of C2CD2L (O14523)
G6E (p.Gly6Glu) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- gnomAD 11-119107758-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available