V30A (p.Val30Ala) variant of LAMB3 (Laminin subunit beta-3)
V30A (p.Val30Ala) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V30A (p.Val30Ala) variant details
- p.Val30Ala
- 1000Genomes rs116643086
- ESP rs116643086
- ExAC rs116643086
- TOPMed rs116643086
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.13
- CADD 12.80
- PolyPhen-2 0.19
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available