I78V (p.Ile78Val) variant of KRT1 (Keratin, type II cytoskeletal 1)
I78V (p.Ile78Val) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I78V (p.Ile78Val) variant details
- p.Ile78Val
- 1000Genomes rs149480015
- ESP rs149480015
- ExAC rs149480015
- TOPMed rs149480015
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.14
- CADD 6.56
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available