S37N (p.Ser37Asn) variant of KRT12 (Keratin, type I cytoskeletal 12)
S37N (p.Ser37Asn) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S37N (p.Ser37Asn) variant details
- p.Ser37Asn
- ExAC rs770746017
- gnomAD rs770746017
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.14
- CADD 17.40
- PolyPhen-2 0.13
- SIFT 0.04
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available