P4Q (p.Pro4Gln) variant of USH2A (Usherin)
P4Q (p.Pro4Gln) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- cosmic curated COSV10024
- TOPMed rs1345731215
- gnomAD rs1345731215
- Missense
- Variant Prioritization Score for Impact Estimate 0.0583
- REVEL 0.02
- CADD 7.51
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available