N6D (p.Asn6Asp) variant of KRT12 (Keratin, type I cytoskeletal 12)
N6D (p.Asn6Asp) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
N6D (p.Asn6Asp) variant details
- p.Asn6Asp
- TOPMed rs1907065474
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.11
- CADD 5.33
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available