A17S (p.Ala17Ser) variant of LAMB3 (Laminin subunit beta-3)
A17S (p.Ala17Ser) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- gnomAD rs1236140290
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available