N21T (p.Asn21Thr) variant of KRT6A (Keratin, type II cytoskeletal 6A)
N21T (p.Asn21Thr) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
N21T (p.Asn21Thr) variant details
- p.Asn21Thr
- 1000Genomes rs17845411
- ESP rs17845411
- ExAC rs17845411
- TOPMed rs17845411
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.08
- CADD 6.49
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Benign (in dbSNP:rs17845411)
- UniProt: Benign (in dbSNP:rs17845411)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available