L30F (p.Leu30Phe) variant of USH2A (Usherin)
L30F (p.Leu30Phe) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- gnomAD rs763164382
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.04
- CADD 13.30
- PolyPhen-2 0.36
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available