G22D (p.Gly22Asp) variant of KRT16 (Keratin, type I cytoskeletal 16)
G22D (p.Gly22Asp) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- TOPMed rs1191152826
- gnomAD rs1191152826
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.18
- CADD 9.50
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available