R41S (p.Arg41Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
R41S (p.Arg41Ser) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- 1000Genomes rs111383277
- ESP rs111383277
- ExAC rs111383277
- TOPMed rs111383277
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.45
- CADD 22.30
- PolyPhen-2 0.16
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available