F58L (p.Phe58Leu) variant of SPTA1 (P02549)
F58L (p.Phe58Leu) in SPTA1 (P02549) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
F58L (p.Phe58Leu) variant details
- p.Phe58Leu
- 1000Genomes rs190704778
- ESP rs190704778
- ExAC rs190704778
- TOPMed rs190704778
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)