P73L (p.Pro73Leu) variant of CHM (P24386)
P73L (p.Pro73Leu) in CHM (P24386) 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 0.16 / 1. The record also includes population frequency data and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- rs2147706622
- ClinGen CA413788119
- ClinVar RCV001912091
- Ensembl rs2147706622
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.06
- MetaLR 0.12
- MetaSVM -1.01
- CADD 11.80
- PolyPhen-2 0.04
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available