C21S (p.Cys21Ser) variant of LAMB3 (Laminin subunit beta-3)
C21S (p.Cys21Ser) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
C21S (p.Cys21Ser) variant details
- p.Cys21Ser
- Ensembl rs751818569
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.69
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available