K48R (p.Lys48Arg) variant of USH2A (Usherin)
K48R (p.Lys48Arg) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- TOPMed rs2039690023
- gnomAD rs2039690023
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.03
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available