Q121R (p.Gln121Arg) variant of BIN1 (O00499)
Q121R (p.Gln121Arg) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q121R (p.Gln121Arg) variant details
- p.Gln121Arg
- cosmic curated COSV10877
- TOPMed rs1185043515
- gnomAD rs1185043515
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.10
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available