R41P (p.Arg41Pro) variant of SPTA1 (P02549)
R41P (p.Arg41Pro) in SPTA1 (P02549) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in EL2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
R41P (p.Arg41Pro) variant details
- p.Arg41Pro
- TOPMed rs778903567
- gnomAD rs778903567
- Uncertain significance
- in EL2
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 18.50
- PolyPhen-2 0.17
- SIFT 0.31
- EBI: Variant of uncertain significance (in EL2)
- UniProt: Uncertain significance (in EL2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)