S22W (p.Ser22Trp) variant of C2CD2L (O14523)
S22W (p.Ser22Trp) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S22W (p.Ser22Trp) variant details
- p.Ser22Trp
- Ensembl rs2134935654
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.87
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available