R41H (p.Arg41His) variant of PTCH1 (Protein patched homolog 1)
R41H (p.Arg41His) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- NCI-TCGA TCGA novel
- Ensembl rs1554709493
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.34
- AlphaMissense 0.29
- MetaLR 0.74
- MetaSVM 0.38
- CADD 25.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available