V38L (p.Val38Leu) variant of KRT12 (Keratin, type I cytoskeletal 12)
V38L (p.Val38Leu) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- ExAC rs746755967
- TOPMed rs746755967
- gnomAD rs746755967
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.17
- CADD 3.42
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available