R112K (p.Arg112Lys) variant of LAMB3 (Laminin subunit beta-3)
R112K (p.Arg112Lys) 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.
R112K (p.Arg112Lys) variant details
- p.Arg112Lys
- ExAC rs745569387
- gnomAD rs745569387
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.17
- CADD 3.39
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available