M70R (p.Met70Arg) variant of SPTA1 (P02549)
M70R (p.Met70Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
M70R (p.Met70Arg) variant details
- p.Met70Arg
- rs1469938477
- ClinGen CA343025539
- ClinVar RCV001509088
- TOPMed rs1469938477
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 18.10
- PolyPhen-2 0.04
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)