A49E (p.Ala49Glu) variant of KRT3 (Keratin, type II cytoskeletal 3)
A49E (p.Ala49Glu) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A49E (p.Ala49Glu) variant details
- p.Ala49Glu
- ExAC rs774159481
- gnomAD rs774159481
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.31
- CADD 6.21
- PolyPhen-2 0.15
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available