P14S (p.Pro14Ser) variant of PRKN (O60260)
P14S (p.Pro14Ser) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- cosmic curated COSV58224
- TOPMed rs1159057404
- gnomAD rs1159057404
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.46
- MetaLR 0.26
- MetaSVM -0.72
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.325