T10K (p.Thr10Lys) variant of BRCA2 (P51587)
T10K (p.Thr10Lys) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
T10K (p.Thr10Lys) variant details
- p.Thr10Lys
- rs1057519494
- ClinGen CA16044272
- ClinVar RCV000416544
- ClinVar RCV000567907
- Uncertain significance
- Missense
- REVEL 0.10
- AlphaMissense 0.47
- MetaLR 0.01
- MetaSVM -1.00
- CADD 25.30
- PolyPhen-2 0.87
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)