L13S (p.Leu13Ser) variant of USH2A (Usherin)
L13S (p.Leu13Ser) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
L13S (p.Leu13Ser) variant details
- p.Leu13Ser
- TOPMed rs1403463697
- gnomAD rs1403463697
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.09
- CADD 14.90
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available