H42Y (p.His42Tyr) variant of PTH1R (Q03431)
H42Y (p.His42Tyr) 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 0.32 / 1. The record also includes structural context.
H42Y (p.His42Tyr) variant details
- p.His42Tyr
- rs387907458
- ClinGen CA216056
- cosmic curated COSV57315
- ClinVar RCV000054584
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available