K29T (p.Lys29Thr) variant of CRB1 (Protein crumbs homolog 1)
K29T (p.Lys29Thr) in CRB1 (Protein crumbs homolog 1) 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 0.28 / 1. The record also includes population frequency data and structural context.
K29T (p.Lys29Thr) variant details
- p.Lys29Thr
- TOPMed rs1454321035
- gnomAD rs1454321035
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.32
- MetaLR 0.55
- MetaSVM -0.34
- CADD 9.93
- PolyPhen-2 0.15
- SIFT 0.78
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available