L23V (p.Leu23Val) variant of C2CD2L (O14523)
L23V (p.Leu23Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- gnomAD rs1219542032
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.70
- PolyPhen-2 0.32
- SIFT 0.11
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available