N21S (p.Asn21Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
N21S (p.Asn21Ser) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Pachyonychia congenita 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
N21S (p.Asn21Ser) variant details
- p.Asn21Ser
- rs17845411
- ClinGen CA6582351
- ClinVar RCV001731069
- ClinVar RCV003984086
- Benign
- Pachyonychia congenita 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.14
- CADD 0.64
- PolyPhen-2 0.00
- SIFT 0.97
- ClinVar: Benign (Pachyonychia congenita 3; not provided)
- EBI: Benign (in dbSNP:rs17845411)
- UniProt: Benign (in dbSNP:rs17845411)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Pachyonychia Congenita. (PMID 20301457)