V49L (p.Val49Leu) variant of PBRM1 (Protein polybromo-1)
V49L (p.Val49Leu) in PBRM1 (Protein polybromo-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- rs542945393
- cosmic curated COSV56302
- ExAC rs542945393
- gnomAD rs542945393
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.92
- MetaLR 0.06
- MetaSVM -1.11
- PolyPhen-2 1.00
- SIFT 0.63
- MutPred 0.42
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.665
- Cited in: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID 21248752)