R23S (p.Arg23Ser) variant of MAPT (P10636)
R23S (p.Arg23Ser) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Prostate cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
R23S (p.Arg23Ser) variant details
- p.Arg23Ser
- rs193920967
- NCI-TCGA Cosmic COSV5224
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99291
- Uncertain significance
- Prostate cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.34
- MetaLR 0.08
- MetaSVM -1.02
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.12
- ClinVar: Uncertain significance (Prostate cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)