T65K (p.Thr65Lys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
T65K (p.Thr65Lys) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
T65K (p.Thr65Lys) variant details
- p.Thr65Lys
- rs910907201
- ClinGen CA301417770
- ClinVar RCV003562148
- TOPMed rs910907201
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.03
- CADD 26.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available