S7N (p.Ser7Asn) variant of OPTN (Optineurin)
S7N (p.Ser7Asn) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- ESP rs370370788
- ExAC rs370370788
- TOPMed rs370370788
- gnomAD rs370370788
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.14
- CADD 17.90
- PolyPhen-2 0.07
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 9.7e-05)