P3T (p.Pro3Thr) variant of C2CD2L (O14523)
P3T (p.Pro3Thr) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P3T (p.Pro3Thr) variant details
- p.Pro3Thr
- gnomAD 11-119107748-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available