A72G (p.Ala72Gly) variant of USH2A (Usherin)
A72G (p.Ala72Gly) 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.
A72G (p.Ala72Gly) variant details
- p.Ala72Gly
- TOPMed rs1320748695
- gnomAD rs1320748695
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.01
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available