D100G (p.Asp100Gly) variant of LAMB3 (Laminin subunit beta-3)
D100G (p.Asp100Gly) in LAMB3 (Laminin subunit beta-3) is a missense change. 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.
D100G (p.Asp100Gly) variant details
- p.Asp100Gly
- Ensembl rs2102445054
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.12
- CADD 20.20
- PolyPhen-2 0.12
- SIFT 0.70
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available