R41Q (p.Arg41Gln) variant of SPTA1 (P02549)
R41Q (p.Arg41Gln) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs778903567
- ClinGen CA31272556
- cosmic curated COSV63754
- ClinVar RCV001508008
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance (in EL2)
- UniProt: Uncertain significance (in EL2)
- Most common in the Latino/Admixed American population (allele frequency 0.0002)