S36N (p.Ser36Asn) variant of PRPH2 (Peripherin-2)
S36N (p.Ser36Asn) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S36N (p.Ser36Asn) variant details
- p.Ser36Asn
- 1000Genomes rs201018137
- gnomAD rs201018137
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.46
- CADD 22.90
- PolyPhen-2 0.16
- SIFT 0.03
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available