K90K (p.Lys90Lys) variant of PRPH2 (Peripherin-2)
K90K (p.Lys90Lys) in PRPH2 (Peripherin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K90K (p.Lys90Lys) variant details
- p.Lys90Lys
- rs530135649
- gnomAD 6-42722065-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 4.46
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available