S97L (p.Ser97Leu) variant of LAMB3 (Laminin subunit beta-3)
S97L (p.Ser97Leu) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S97L (p.Ser97Leu) variant details
- p.Ser97Leu
- gnomAD rs1262228203
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.88
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available