D242N (p.Asp242Asn) variant of PANK1 (Pantothenate kinase 1)
D242N (p.Asp242Asn) in PANK1 (Pantothenate kinase 1) is a missense change. Clinical records describe it as []. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1.
D242N (p.Asp242Asn) variant details
- p.Asp242Asn
- rs780297087
- []
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00