L7V (p.Leu7Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
L7V (p.Leu7Val) in NKX2-5 (Homeobox protein Nkx-2.5) 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 and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- TOPMed rs1277858223
- gnomAD rs1277858223
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.26
- CADD 18.30
- PolyPhen-2 0.07
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available