A13T (p.Ala13Thr) variant of C2CD2L (O14523)
A13T (p.Ala13Thr) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- gnomAD 11-119107778-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available