T2N (p.Thr2Asn) variant of BDNF (P23560)
T2N (p.Thr2Asn) in BDNF (P23560) 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 0.48 / 1. The record also includes population frequency data.
T2N (p.Thr2Asn) variant details
- p.Thr2Asn
- rs8192466
- ClinGen CA5929149
- ClinVar RCV003404640
- ClinVar RCV006616884
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.26
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign (found in a patient with congenital central hypoventilation syndr)
- UniProt: Likely benign (found in a patient with congenital central hypoventilation syndr)
- Most common in the South Asian population (allele frequency 0.00043)