L130Q (p.Leu130Gln) variant of BIN1 (O00499)
L130Q (p.Leu130Gln) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L130Q (p.Leu130Gln) variant details
- p.Leu130Gln
- TOPMed rs1392736794
- gnomAD rs1392736794
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.53
- CADD 24.90
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available