Q102P (p.Gln102Pro) variant of SPTA1 (P02549)
Q102P (p.Gln102Pro) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
Q102P (p.Gln102Pro) variant details
- p.Gln102Pro
- TOPMed rs1267545224
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 22.40
- PolyPhen-2 0.61
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)