S22P (p.Ser22Pro) variant of C2CD2L (O14523)
S22P (p.Ser22Pro) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- gnomAD 11-119107805-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.90
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available
- Literature evidence available