V38I (p.Val38Ile) variant of KRT12 (Keratin, type I cytoskeletal 12)
V38I (p.Val38Ile) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V38I (p.Val38Ile) variant details
- p.Val38Ile
- ExAC rs746755967
- TOPMed rs746755967
- gnomAD rs746755967
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.13
- CADD 3.57
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available