K21N (p.Lys21Asn) variant of BIN1 (O00499)
K21N (p.Lys21Asn) in BIN1 (O00499) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K21N (p.Lys21Asn) variant details
- p.Lys21Asn
- ExAC rs767681993
- gnomAD rs767681993
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.21
- CADD 24.80
- PolyPhen-2 0.03
- SIFT 0.00
- EBI: uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available