I17T (p.Ile17Thr) variant of C2CD2L (O14523)
I17T (p.Ile17Thr) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I17T (p.Ile17Thr) variant details
- p.Ile17Thr
- gnomAD rs1350348951
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.48
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available