K16T (p.Lys16Thr) variant of HADHB (P55084)
K16T (p.Lys16Thr) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K16T (p.Lys16Thr) variant details
- p.Lys16Thr
- ExAC rs768017278
- gnomAD rs768017278
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.21
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available