T419A (p.Thr419Ala) variant of GRIN1 (Q05586)
T419A (p.Thr419Ala) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; Inborn genetic diseases; Neurodevelopmental disorder with or with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T419A (p.Thr419Ala) variant details
- p.Thr419Ala
- rs763133592
- Conflicting interpretations
- not specified; Inborn genetic diseases; Neurodevelopmental disorder with or with
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.16
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inborn genetic diseases; Neurodevelopmental disor)
- UniProt: Conflicting interpretations (in dbSNP:rs763133592)
- Population evidence available
- Structural context available
- Cited in: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (PMID 22833210)