L41I (p.Leu41Ile) variant of PBRM1 (Protein polybromo-1)
L41I (p.Leu41Ile) in PBRM1 (Protein polybromo-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L41I (p.Leu41Ile) variant details
- p.Leu41Ile
- cosmic curated COSV99971
- TOPMed rs1317265743
- gnomAD rs1317265743
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.04
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.132