A28S (p.Ala28Ser) variant of C2CD2L (O14523)
A28S (p.Ala28Ser) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- TOPMed rs937225914
- gnomAD rs937225914
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.51
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available