S2N (p.Ser2Asn) variant of ACAD9 (Q9H845)
S2N (p.Ser2Asn) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- rs761385146
- ClinGen CA2600993
- ClinVar RCV003115092
- ExAC rs761385146
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.20
- CADD 1.78
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available