A28V (p.Ala28Val) variant of C2CD2L (O14523)
A28V (p.Ala28Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- TOPMed rs1946626578
- gnomAD rs1946626578
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available