P212H (p.Pro212His) variant of PBRM1 (Protein polybromo-1)
P212H (p.Pro212His) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P212H (p.Pro212His) variant details
- p.Pro212His
- cosmic curated COSV10461
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.54
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available