P61L (p.Pro61Leu) variant of USH2A (Usherin)
P61L (p.Pro61Leu) in USH2A (Usherin) 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 0.27 / 1. The record also includes population frequency data and structural context.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- cosmic curated COSV10513
- TOPMed rs938662688
- gnomAD rs938662688
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.13
- CADD 22.70
- PolyPhen-2 0.48
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available