K59R (p.Lys59Arg) variant of NRXN1 (Neurexin-1)
K59R (p.Lys59Arg) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pitt-Hopkins-like syndrome 2. 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.
K59R (p.Lys59Arg) variant details
- p.Lys59Arg
- rs1311818932
- ClinGen CA346824529
- ClinVar RCV001302313
- ClinVar RCV003106187
- Uncertain significance
- not provided; Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.23
- CADD 22.30
- PolyPhen-2 0.21
- SIFT 0.37
- ClinVar: Uncertain significance (not provided; Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available