K65T (p.Lys65Thr) variant of LAMB3 (Laminin subunit beta-3)
K65T (p.Lys65Thr) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
K65T (p.Lys65Thr) variant details
- p.Lys65Thr
- ESP rs375522351
- ExAC rs375522351
- TOPMed rs375522351
- gnomAD rs375522351
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.68
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available