L30P (p.Leu30Pro) variant of C2CD2L (O14523)
L30P (p.Leu30Pro) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- gnomAD 11-119107830-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 28.90
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available