L31P (p.Leu31Pro) variant of C2CD2L (O14523)
L31P (p.Leu31Pro) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- gnomAD 11-119107833-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available