R618W (p.Arg618Trp) variant of AR (Androgen receptor)
R618W (p.Arg618Trp) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Male infertility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R618W (p.Arg618Trp) variant details
- p.Arg618Trp
- rs1218564193
- ClinGen CA413429315
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65958
- Likely pathogenic
- Male infertility
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.22
- ClinVar: Likely pathogenic (Male infertility)
- EBI: Likely pathogenic (in AIS and PAIS)
- UniProt: Likely pathogenic (in AIS and PAIS)
- Population evidence available
- Structural context available