K45Q (p.Lys45Gln) variant of NRXN1 (Neurexin-1)
K45Q (p.Lys45Gln) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K45Q (p.Lys45Gln) variant details
- p.Lys45Gln
- gnomAD rs1472275567
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available