A91S (p.Ala91Ser) variant of PRKN (O60260)
A91S (p.Ala91Ser) in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A91S (p.Ala91Ser) variant details
- p.Ala91Ser
- cosmic curated COSV10591
- 1000Genomes rs552077922
- ExAC rs552077922
- gnomAD rs552077922
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.29
- MetaLR 0.24
- MetaSVM -0.68
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.82
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.979