V131A (p.Val131Ala) variant of SLC2A1 (P11166)
V131A (p.Val131Ala) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Epil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V131A (p.Val131Ala) variant details
- p.Val131Ala
- rs987202561
- ClinGen CA21252047
- ClinVar RCV001214071
- ClinVar RCV002287482
- Uncertain significance
- Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Epil
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.30
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary cryohydrocytosis with reduce)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)