H16R (p.His16Arg) variant of LAMB3 (Laminin subunit beta-3)
H16R (p.His16Arg) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
H16R (p.His16Arg) variant details
- p.His16Arg
- TOPMed rs1245735034
- gnomAD rs1245735034
- Missense
- Variant Prioritization Score for Impact Estimate 0.057
- REVEL 0.02
- CADD 5.45
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available