R6R (p.Arg6Arg) variant of SDHD (O14521)
R6R (p.Arg6Arg) in SDHD (O14521) 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.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- rs200895313
- gnomAD 11-112086925-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.31
- MetaLR 0.75
- MetaSVM 0.23
- CADD 10.30
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available