S8N (p.Ser8Asn) variant of KEAP1 (Q14145)
S8N (p.Ser8Asn) in KEAP1 (Q14145) 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 0.34 / 1. The record also includes population frequency data and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- rs746950247
- ExAC rs746950247
- gnomAD rs746950247
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.12
- CADD 22.20
- PolyPhen-2 0.48
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available