L69V (p.Leu69Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
L69V (p.Leu69Val) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L69V (p.Leu69Val) variant details
- p.Leu69Val
- gnomAD rs1459934714
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.22
- CADD 18.40
- PolyPhen-2 0.07
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available