K45N (p.Lys45Asn) variant of SIX1 (Homeobox protein SIX1)
K45N (p.Lys45Asn) in SIX1 (Homeobox protein SIX1) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K45N (p.Lys45Asn) variant details
- p.Lys45Asn
- NCI-TCGA Cosmic COSV5596
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99903
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.736