S7N (p.Ser7Asn) variant of KRT13 (Keratin, type I cytoskeletal 13)
S7N (p.Ser7Asn) in KRT13 (Keratin, type I cytoskeletal 13) 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 0.29 / 1. The record also includes population frequency data and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- rs1370565401
- NCI-TCGA Cosmic COSV9987
- cosmic curated COSV99877
- gnomAD rs1370565401
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.18
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available