A28T (p.Ala28Thr) variant of C2CD2L (O14523)
A28T (p.Ala28Thr) 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.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- TOPMed rs937225914
- gnomAD rs937225914
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.26
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available