R34S (p.Arg34Ser) variant of GCH1 (GTP cyclohydrolase 1)
R34S (p.Arg34Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R34S (p.Arg34Ser) variant details
- p.Arg34Ser
- Ensembl rs954444362
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.40
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available