A8T (p.Ala8Thr) variant of PBRM1 (Protein polybromo-1)
A8T (p.Ala8Thr) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- cosmic curated COSV56307
- TOPMed rs1169692229
- gnomAD rs1169692229
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.03
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.25