A40S (p.Ala40Ser) variant of C2CD2L (O14523)
A40S (p.Ala40Ser) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- gnomAD 11-119107859-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available