Q3P (p.Gln3Pro) variant of SPTA1 (P02549)
Q3P (p.Gln3Pro) 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 0.11 / 1. The record also includes population frequency data.
Q3P (p.Gln3Pro) variant details
- p.Gln3Pro
- ExAC rs761277927
- TOPMed rs761277927
- gnomAD rs761277927
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 8.08
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.091)