T9A (p.Thr9Ala) variant of PBRM1 (Protein polybromo-1)
T9A (p.Thr9Ala) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T9A (p.Thr9Ala) variant details
- p.Thr9Ala
- cosmic curated COSV56315
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.15
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.264