A40T (p.Ala40Thr) variant of C2CD2L (O14523)
A40T (p.Ala40Thr) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- gnomAD 11-119107859-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available