S71C (p.Ser71Cys) variant of LAMB3 (Laminin subunit beta-3)
S71C (p.Ser71Cys) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S71C (p.Ser71Cys) variant details
- p.Ser71Cys
- cosmic curated COSV61916
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.85
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available