P32A (p.Pro32Ala) variant of DOCK8 (Q8NF50)
P32A (p.Pro32Ala) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P32A (p.Pro32Ala) variant details
- p.Pro32Ala
- gnomAD 9-271667-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.06
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available