L54F (p.Leu54Phe) variant of CHD7 (Q9P2D1)
L54F (p.Leu54Phe) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- gnomAD 8-60741592-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.23
- MetaLR 0.38
- MetaSVM -0.21
- CADD 24.70
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available