P45H (p.Pro45His) variant of WRN (Q14191)
P45H (p.Pro45His) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P45H (p.Pro45His) variant details
- p.Pro45His
- gnomAD 8-31059190-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.28
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available