W34R (p.Trp34Arg) variant of MCCC1 (Q96RQ3)
W34R (p.Trp34Arg) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
W34R (p.Trp34Arg) variant details
- p.Trp34Arg
- Ensembl rs2108569952
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.66
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available