P62L (p.Pro62Leu) variant of AGT (Angiotensinogen)
P62L (p.Pro62Leu) in AGT (Angiotensinogen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Renal tubular dysgenesis of genetic origin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- rs112711075
- ClinGen CA1448356
- ClinVar RCV003082479
- ClinVar RCV005021560
- Conflicting interpretations
- not provided; Renal tubular dysgenesis of genetic origin
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.22
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not provided; Renal tubular dysgenesis of genetic origin)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available