S21L (p.Ser21Leu) variant of DOCK8 (Q8NF50)
S21L (p.Ser21Leu) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S21L (p.Ser21Leu) variant details
- p.Ser21Leu
- 1000Genomes rs2129939906
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.47
- MetaLR 0.04
- MetaSVM -1.12
- CADD 26.30
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available