A34T (p.Ala34Thr) variant of C2CD2L (O14523)
A34T (p.Ala34Thr) 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.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- gnomAD 11-119107841-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 20.20
- PolyPhen-2 0.07
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available