D78Y (p.Asp78Tyr) variant of SPTA1 (P02549)
D78Y (p.Asp78Tyr) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
D78Y (p.Asp78Tyr) variant details
- p.Asp78Tyr
- cosmic curated COSV63750
- Ensembl rs1655074304
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)