G46V (p.Gly46Val) variant of SPTA1 (P02549)
G46V (p.Gly46Val) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Elliptocytosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- rs121918638
- ClinGen CA122753
- ClinVar RCV000013704
- ClinVar RCV006461145
- Conflicting interpretations
- not provided; Elliptocytosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 23.20
- PolyPhen-2 0.84
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not provided; Elliptocytosis 2)
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Cited in: Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40… (PMID 2384601)
- Cited in: Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at… (PMID 2568861)