K45R (p.Lys45Arg) variant of NRXN1 (Neurexin-1)
K45R (p.Lys45Arg) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K45R (p.Lys45Arg) variant details
- p.Lys45Arg
- rs1670899012
- ClinGen CA346824638
- ClinVar RCV002301600
- gnomAD rs1670899012
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.23
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available