R78T (p.Arg78Thr) variant of CFH (Complement factor H)
R78T (p.Arg78Thr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R78T (p.Arg78Thr) variant details
- p.Arg78Thr
- rs758081247
- gnomAD 1-196673152-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.19
- CADD 7.85
- PolyPhen-2 0.31
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available