P4L (p.Pro4Leu) variant of USH2A (Usherin)
P4L (p.Pro4Leu) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- TOPMed rs1345731215
- gnomAD rs1345731215
- Missense
- Variant Prioritization Score for Impact Estimate 0.0448
- REVEL 0.02
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available