A271V (p.Ala271Val) variant of GRIN2B (Q13224)
A271V (p.Ala271Val) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided; Intellectual disability, autosomal domina. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
A271V (p.Ala271Val) variant details
- p.Ala271Val
- rs138098032
- Benign/Likely benign
- Inborn genetic diseases; not provided; Intellectual disability, autosomal domina
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- MetaLR 0.01
- MetaSVM -0.97
- CADD 21.30
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided; Intellectual disability,)
- UniProt: Likely benign (in dbSNP:rs138098032)
- Population evidence available
- Cited in: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (PMID 22833210)