M144I (p.Met144Ile) variant of NRXN2 (Neurexin-2)
M144I (p.Met144Ile) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
M144I (p.Met144Ile) variant details
- p.Met144Ile
- gnomAD rs1344045371
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.71
- MetaLR 0.55
- MetaSVM 0.15
- CADD 23.80
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available