P69R (p.Pro69Arg) variant of GCH1 (GTP cyclohydrolase 1)
P69R (p.Pro69Arg) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P69R (p.Pro69Arg) variant details
- p.Pro69Arg
- 1000Genomes rs56127440
- ESP rs56127440
- ExAC rs56127440
- TOPMed rs56127440
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.68
- CADD 24.00
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available