G27A (p.Gly27Ala) variant of KRT16 (Keratin, type I cytoskeletal 16)
G27A (p.Gly27Ala) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- gnomAD rs1398447203
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.47
- CADD 20.70
- PolyPhen-2 1.00
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available