T10I (p.Thr10Ile) variant of NRXN2 (Neurexin-2)
T10I (p.Thr10Ile) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- gnomAD rs1376800175
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.04
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available