V35A (p.Val35Ala) variant of LAMB3 (Laminin subunit beta-3)
V35A (p.Val35Ala) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- ExAC rs765484485
- gnomAD rs765484485
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.30
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available