G36C (p.Gly36Cys) variant of C2CD2L (O14523)
G36C (p.Gly36Cys) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G36C (p.Gly36Cys) variant details
- p.Gly36Cys
- gnomAD 11-119107847-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 24.00
- PolyPhen-2 0.53
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available