V82I (p.Val82Ile) variant of LAMB3 (Laminin subunit beta-3)
V82I (p.Val82Ile) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V82I (p.Val82Ile) variant details
- p.Val82Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.15
- CADD 17.00
- PolyPhen-2 0.23
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available