S741P (p.Ser741Pro) variant of AR (Androgen receptor)
S741P (p.Ser741Pro) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
S741P (p.Ser741Pro) variant details
- p.Ser741Pro
- rs2147530773
- ClinGen CA413424504
- ClinVar RCV003130941
- Likely pathogenic
- Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- AlphaMissense 0.58
- MetaLR 0.85
- MetaSVM 0.75
- SIFT 0.03
- EVE 0.32
- ClinVar: Likely pathogenic (Androgen resistance syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)