W29L (p.Trp29Leu) variant of C2CD2L (O14523)
W29L (p.Trp29Leu) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
W29L (p.Trp29Leu) variant details
- p.Trp29Leu
- gnomAD 11-119107827-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.68
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available