P7L (p.Pro7Leu) variant of HADHB (P55084)
P7L (p.Pro7Leu) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- gnomAD rs866708381
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.31
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available