G11V (p.Gly11Val) variant of C2CD2L (O14523)
G11V (p.Gly11Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 11-119107773-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.10
- PolyPhen-2 0.38
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available