P61Q (p.Pro61Gln) variant of USH2A (Usherin)
P61Q (p.Pro61Gln) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P61Q (p.Pro61Gln) variant details
- p.Pro61Gln
- rs938662688
- ClinGen CA37922148
- ClinVar RCV000601357
- ClinVar RCV001829716
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.08
- CADD 18.50
- PolyPhen-2 0.13
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Usher Syndrome Type II. (PMID 20301515)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)