D61E (p.Asp61Glu) variant of SPTA1 (P02549)
D61E (p.Asp61Glu) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
D61E (p.Asp61Glu) variant details
- p.Asp61Glu
- 1000Genomes rs539667133
- ExAC rs539667133
- gnomAD rs539667133
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 23.60
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.005)