V75L (p.Val75Leu) variant of NKX2-1 (Homeobox protein Nkx-2.1)
V75L (p.Val75Leu) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
V75L (p.Val75Leu) variant details
- p.Val75Leu
- rs776161318
- ClinGen CA389460849
- ClinVar RCV001934888
- ExAC rs776161318
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 0.35
- MetaLR 0.70
- MetaSVM 0.28
- PolyPhen-2 0.63
- SIFT 0.01
- EVE 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available