L31V (p.Leu31Val) variant of C2CD2L (O14523)
L31V (p.Leu31Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- ExAC rs773390187
- TOPMed rs773390187
- gnomAD rs773390187
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 17.30
- PolyPhen-2 0.14
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available