N2S (p.Asn2Ser) variant of RHO (Rhodopsin)
N2S (p.Asn2Ser) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- gnomAD rs2084755497
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.74
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available