A20D (p.Ala20Asp) variant of LAMB3 (Laminin subunit beta-3)
A20D (p.Ala20Asp) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- cosmic curated COSV10591
- TOPMed rs1425528140
- gnomAD rs1425528140
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.13
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available