A28P (p.Ala28Pro) variant of C2CD2L (O14523)
A28P (p.Ala28Pro) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A28P (p.Ala28Pro) variant details
- p.Ala28Pro
- TOPMed rs937225914
- gnomAD rs937225914
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 23.10
- PolyPhen-2 0.28
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available