R38W (p.Arg38Trp) variant of BDNF (P23560)
R38W (p.Arg38Trp) in BDNF (P23560) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- rs771341699
- NCI-TCGA Cosmic COSV5923
- cosmic curated COSV59233
- ExAC rs771341699
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.48
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)