R40H (p.Arg40His) variant of PTCH1 (Protein patched homolog 1)
R40H (p.Arg40His) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- ExAC rs755400723
- gnomAD rs755400723
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.23
- AlphaMissense 0.14
- MetaLR 0.53
- MetaSVM -0.39
- CADD 18.20
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available