P73A (p.Pro73Ala) variant of CHM (P24386)
P73A (p.Pro73Ala) in CHM (P24386) 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 0.13 / 1. The record also includes population frequency data and structural context.
P73A (p.Pro73Ala) variant details
- p.Pro73Ala
- rs775421659
- ClinGen CA413788123
- ClinVar RCV003405037
- ExAC rs775421659
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -1.01
- CADD 2.98
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available