A137T (p.Ala137Thr) variant of PBRM1 (Protein polybromo-1)
A137T (p.Ala137Thr) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A137T (p.Ala137Thr) variant details
- p.Ala137Thr
- cosmic curated COSV56288
- Ensembl rs587778592
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.62
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available