G36S (p.Gly36Ser) variant of C2CD2L (O14523)
G36S (p.Gly36Ser) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G36S (p.Gly36Ser) variant details
- p.Gly36Ser
- gnomAD 11-119107847-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available