D34Y (p.Asp34Tyr) variant of MAPT (P10636)
D34Y (p.Asp34Tyr) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D34Y (p.Asp34Tyr) variant details
- p.Asp34Tyr
- rs193920968
- ClinGen CA174627
- cosmic curated COSV52244
- ClinVar RCV000149239
- Uncertain significance
- Prostate cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.21
- MetaLR 0.21
- MetaSVM -0.73
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Prostate cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)