N36H (p.Asn36His) variant of PCCB (P05166)
N36H (p.Asn36His) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N36H (p.Asn36His) variant details
- p.Asn36His
- rs1941480759
- ClinGen CA354737995
- ClinVar RCV003110640
- TOPMed rs1941480759
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00018)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)