V30M (p.Val30Met) variant of AR (Androgen receptor)
V30M (p.Val30Met) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs761416673
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65952
- ExAC rs761416673
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.81
- MetaLR 0.88
- MetaSVM 0.98
- SIFT 0.00
- MutPred 0.65
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- AR Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.191