R173L (p.Arg173Leu) variant of PTPN11 (Q06124)
R173L (p.Arg173Leu) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Male infertility with azoospermia or oligozoospermia due to single gene mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R173L (p.Arg173Leu) variant details
- p.Arg173Leu
- rs369155025
- ClinGen CA6798556
- ClinVar RCV003991597
- ESP rs369155025
- Likely pathogenic
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.77
- AlphaMissense 0.32
- MetaLR 0.52
- MetaSVM -0.27
- CADD 24.30
- PolyPhen-2 0.04
- ClinVar: Likely pathogenic (Male infertility with azoospermia or oligozoospermia due to sing)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available