L39P (p.Leu39Pro) variant of C2CD2L (O14523)
L39P (p.Leu39Pro) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L39P (p.Leu39Pro) variant details
- p.Leu39Pro
- gnomAD 11-119107857-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.07
- ESM-1b 0.60
- AlphaMissense 0.11
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available