K47Q (p.Lys47Gln) variant of USH2A (Usherin)
K47Q (p.Lys47Gln) in USH2A (Usherin) is a missense change. The record also includes variant effect predictions and structural context.
K47Q (p.Lys47Gln) variant details
- p.Lys47Gln
- Ensembl rs2039690104
- Missense
- MetaLR 0.13
- MetaSVM -0.78
- SIFT 0.00
- Structural context available