F19L (p.Phe19Leu) variant of C2CD2L (O14523)
F19L (p.Phe19Leu) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F19L (p.Phe19Leu) variant details
- p.Phe19Leu
- gnomAD rs1268421147
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available