M781I (p.Met781Ile) variant of AR (Androgen receptor)
M781I (p.Met781Ile) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
M781I (p.Met781Ile) variant details
- p.Met781Ile
- rs137852589
- ClinGen CA120769
- ClinVar RCV000010516
- gnomAD rs137852589
- Pathogenic/Likely pathogenic
- not provided; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- SIFT 0.05
- EVE 0.57
- ClinVar: Pathogenic/Likely pathogenic (not provided; Androgen resistance syndrome)
- EBI: Pathogenic (in PAIS and AIS)
- UniProt: Pathogenic (in PAIS and AIS)
- Population evidence available
- Structural context available
- Cited in: Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I… (PMID 10323251)
- Cited in: Genotype versus phenotype in families with androgen insensitivity syndrome. (PMID 11549642)