P33A (p.Pro33Ala) variant of MYLK (Q15746)
P33A (p.Pro33Ala) in MYLK (Q15746) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P33A (p.Pro33Ala) variant details
- p.Pro33Ala
- ExAC rs770959360
- TOPMed rs770959360
- gnomAD rs770959360
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.44
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available