C8S (p.Cys8Ser) variant of LAMB3 (Laminin subunit beta-3)
C8S (p.Cys8Ser) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
C8S (p.Cys8Ser) variant details
- p.Cys8Ser
- rs1450626807
- gnomAD rs1450626807
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.07
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available