I17F (p.Ile17Phe) variant of C2CD2L (O14523)
I17F (p.Ile17Phe) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
I17F (p.Ile17Phe) variant details
- p.Ile17Phe
- ExAC rs780805311
- gnomAD rs780805311
- Missense
- Variant Prioritization Score for Impact Estimate 0.0943
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 9.64
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the East Asian population (allele frequency 9e-05)
- Structural context available