L21I (p.Leu21Ile) variant of KRT12 (Keratin, type I cytoskeletal 12)
L21I (p.Leu21Ile) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L21I (p.Leu21Ile) variant details
- p.Leu21Ile
- gnomAD rs1406502047
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.12
- CADD 8.09
- PolyPhen-2 0.09
- SIFT 0.12
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available