P50Q (p.Pro50Gln) variant of CDC42 (P60953)
P50Q (p.Pro50Gln) in CDC42 (P60953) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P50Q (p.Pro50Gln) variant details
- p.Pro50Gln
- Ensembl rs1645610224
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.08
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available