P50L (p.Pro50Leu) variant of MYO7A (Unconventional myosin-VIIa)
P50L (p.Pro50Leu) in MYO7A (Unconventional myosin-VIIa) 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 0.40 / 1. The record also includes population frequency data and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs372170717
- ClinGen CA6197059
- ClinVar RCV001885771
- ESP rs372170717
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.30
- AlphaMissense 0.15
- MetaLR 0.30
- MetaSVM -0.41
- CADD 23.00
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available