N24S (p.Asn24Ser) variant of PRPH2 (Peripherin-2)
N24S (p.Asn24Ser) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- TOPMed rs1210359538
- gnomAD rs1210359538
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.54
- CADD 22.90
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available