S51N (p.Ser51Asn) variant of ABCC9 (O60706)
S51N (p.Ser51Asn) in ABCC9 (O60706) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S51N (p.Ser51Asn) variant details
- p.Ser51Asn
- rs1342458654
- gnomAD rs1342458654
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.65
- CADD 24.20
- PolyPhen-2 0.46
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BIAKA population (allele frequency 0.18)
- Structural context available