F38L (p.Phe38Leu) variant of SPTA1 (P02549)
F38L (p.Phe38Leu) 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 0.58 / 1. The record also includes population frequency data.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- 1000Genomes rs370472299
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 23.40
- PolyPhen-2 0.32
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)