P9T (p.Pro9Thr) variant of BRCA2 (P51587)
P9T (p.Pro9Thr) 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 and population frequency data.
P9T (p.Pro9Thr) variant details
- p.Pro9Thr
- Ensembl rs1593880685
- Uncertain significance
- Missense
- REVEL 0.11
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)