E122D (p.Glu122Asp) variant of LAMB3 (Laminin subunit beta-3)
E122D (p.Glu122Asp) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
E122D (p.Glu122Asp) variant details
- p.Glu122Asp
- TOPMed rs893306221
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.15
- CADD 2.42
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available