R13L (p.Arg13Leu) variant of PTCH1 (Protein patched homolog 1)
R13L (p.Arg13Leu) 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 0.27 / 1. The record also includes population frequency data and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- Ensembl rs1843911577
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.21
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available