K37E (p.Lys37Glu) variant of WRN (Q14191)
K37E (p.Lys37Glu) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K37E (p.Lys37Glu) variant details
- p.Lys37Glu
- gnomAD 8-31059165-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.22
- CADD 26.40
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available