D111N (p.Asp111Asn) variant of LAMB3 (Laminin subunit beta-3)
D111N (p.Asp111Asn) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D111N (p.Asp111Asn) variant details
- p.Asp111Asn
- TOPMed rs901629147
- gnomAD rs901629147
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.26
- CADD 17.10
- PolyPhen-2 0.29
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available