L108V (p.Leu108Val) variant of LAMB3 (Laminin subunit beta-3)
L108V (p.Leu108Val) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L108V (p.Leu108Val) variant details
- p.Leu108Val
- ExAC rs748738681
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.64
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available