I87V (p.Ile87Val) variant of SPTA1 (P02549)
I87V (p.Ile87Val) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
I87V (p.Ile87Val) variant details
- p.Ile87Val
- ESP rs369020363
- ExAC rs369020363
- TOPMed rs369020363
- gnomAD rs369020363
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 23.30
- PolyPhen-2 0.24
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)