P6R (p.Pro6Arg) variant of MYL3 (Myosin light chain 3)
P6R (p.Pro6Arg) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- rs730880959
- ClinGen CA013598
- ClinVar RCV000158957
- ExAC rs730880959
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- CADD 22.90
- PolyPhen-2 0.16
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available