S29R (p.Ser29Arg) variant of KRT16 (Keratin, type I cytoskeletal 16)
S29R (p.Ser29Arg) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S29R (p.Ser29Arg) variant details
- p.Ser29Arg
- 1000Genomes rs758867324
- ExAC rs758867324
- TOPMed rs758867324
- gnomAD rs758867324
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.18
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available