S52N (p.Ser52Asn) variant of KRT12 (Keratin, type I cytoskeletal 12)
S52N (p.Ser52Asn) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S52N (p.Ser52Asn) variant details
- p.Ser52Asn
- gnomAD rs1214997129
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- CADD 7.22
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available