V101L (p.Val101Leu) variant of LAMB3 (Laminin subunit beta-3)
V101L (p.Val101Leu) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V101L (p.Val101Leu) variant details
- p.Val101Leu
- gnomAD rs1410688051
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.24
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available