Q7K (p.Gln7Lys) variant of C2CD2L (O14523)
Q7K (p.Gln7Lys) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q7K (p.Gln7Lys) variant details
- p.Gln7Lys
- gnomAD rs1478098199
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available