N67T (p.Asn67Thr) variant of GCH1 (GTP cyclohydrolase 1)
N67T (p.Asn67Thr) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N67T (p.Asn67Thr) variant details
- p.Asn67Thr
- gnomAD rs1240134623
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available