R17H (p.Arg17His) variant of PCCA (P05165)
R17H (p.Arg17His) in PCCA (P05165) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- rs768914819
- ClinGen CA388692671
- ClinVar RCV001967256
- ExAC rs768914819
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)