S25N (p.Ser25Asn) variant of KRT12 (Keratin, type I cytoskeletal 12)
S25N (p.Ser25Asn) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S25N (p.Ser25Asn) variant details
- p.Ser25Asn
- 1000Genomes rs537683583
- gnomAD rs537683583
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- CADD 7.00
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available