N55S (p.Asn55Ser) variant of RHO (Rhodopsin)
N55S (p.Asn55Ser) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
N55S (p.Asn55Ser) variant details
- p.Asn55Ser
- gnomAD 3-129528897-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.93
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available