S52F (p.Ser52Phe) variant of SPTA1 (P02549)
S52F (p.Ser52Phe) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes population frequency data.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10093
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)