N36K (p.Asn36Lys) variant of PCCB (P05166)
N36K (p.Asn36Lys) 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 0.28 / 1. The record also includes population frequency data and structural context.
N36K (p.Asn36Lys) variant details
- p.Asn36Lys
- TOPMed rs1264842754
- gnomAD rs1264842754
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available