A34S (p.Ala34Ser) variant of C2CD2L (O14523)
A34S (p.Ala34Ser) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- gnomAD 11-119107841-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available