D64A (p.Asp64Ala) variant of NTRK2 (Q16620)
D64A (p.Asp64Ala) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D64A (p.Asp64Ala) variant details
- p.Asp64Ala
- rs781249905
- ClinGen CA374004929
- ClinVar RCV003824761
- ClinVar RCV005377575
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.25
- CADD 24.80
- PolyPhen-2 0.38
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)