M127L (p.Met127Leu) variant of LAMB3 (Laminin subunit beta-3)
M127L (p.Met127Leu) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
M127L (p.Met127Leu) variant details
- p.Met127Leu
- 1000Genomes rs202025705
- ExAC rs202025705
- TOPMed rs202025705
- gnomAD rs202025705
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.20
- CADD 1.48
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available