R150Q (p.Arg150Gln) variant of KRT13 (Keratin, type I cytoskeletal 13)
R150Q (p.Arg150Gln) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of White sponge nevus 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R150Q (p.Arg150Gln) variant details
- p.Arg150Gln
- rs548070268
- ClinGen CA8560792
- ClinVar RCV000313078
- 1000Genomes rs548070268
- Benign
- White sponge nevus 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.86
- SIFT 0.01
- ClinVar: Benign (White sponge nevus 2)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available