K42R (p.Lys42Arg) variant of PCCB (P05166)
K42R (p.Lys42Arg) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, 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 0.51 / 1. The record also includes population frequency data and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- TOPMed rs1441973778
- gnomAD rs1441973778
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.49
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available