K40T (p.Lys40Thr) variant of BIN1 (O00499)
K40T (p.Lys40Thr) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K40T (p.Lys40Thr) variant details
- p.Lys40Thr
- ExAC rs781496643
- gnomAD rs781496643
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.61
- CADD 24.50
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available