I75T (p.Ile75Thr) variant of SPTA1 (P02549)
I75T (p.Ile75Thr) 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; Pyropoikilocytosis, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
I75T (p.Ile75Thr) variant details
- p.Ile75Thr
- rs146993090
- ClinGen CA1184231
- ClinVar RCV000266135
- ClinVar RCV000323519
- Conflicting interpretations
- not provided; Elliptocytosis 2; Pyropoikilocytosis, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 12.00
- PolyPhen-2 0.03
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (not provided; Elliptocytosis 2; Pyropoikilocytosis, hereditary)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)