Q37K (p.Gln37Lys) variant of PTH1R (Q03431)
Q37K (p.Gln37Lys) in PTH1R (Q03431) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
Q37K (p.Gln37Lys) variant details
- p.Gln37Lys
- rs794727622
- ClinGen CA245094
- ClinVar RCV000178075
- Ensembl rs794727622
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.80
- MetaLR 0.42
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available