V37V (p.Val37Val) variant of DYSF (Dysferlin)
V37V (p.Val37Val) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V37V (p.Val37Val) variant details
- p.Val37Val
- rs963586500
- gnomAD 2-71480905-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 12.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available