A21P (p.Ala21Pro) variant of C2CD2L (O14523)
A21P (p.Ala21Pro) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- gnomAD 11-119107802-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available