D111V (p.Asp111Val) variant of LAMB3 (Laminin subunit beta-3)
D111V (p.Asp111Val) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D111V (p.Asp111Val) variant details
- p.Asp111Val
- 1000Genomes rs55824996
- ESP rs55824996
- ExAC rs55824996
- TOPMed rs55824996
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.66
- CADD 25.20
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available