I101T (p.Ile101Thr) variant of KRT10 (Keratin, type I cytoskeletal 10)
I101T (p.Ile101Thr) in KRT10 (Keratin, type I cytoskeletal 10) 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 0.16 / 1. The record also includes population frequency data.
I101T (p.Ile101Thr) variant details
- p.Ile101Thr
- 1000Genomes rs4261597
- ESP rs4261597
- ExAC rs4261597
- TOPMed rs4261597
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.20
- CADD 7.21
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Benign (in dbSNP:rs4261597)
- UniProt: Benign (in dbSNP:rs4261597)
- Most common in the REMAINING population (allele frequency 0.00048)