H44P (p.His44Pro) variant of LAMC2 (Laminin subunit gamma-2)
H44P (p.His44Pro) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H44P (p.His44Pro) variant details
- p.His44Pro
- TOPMed rs1391397968
- gnomAD rs1391397968
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.19
- CADD 20.90
- PolyPhen-2 0.27
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available