P30R (p.Pro30Arg) variant of CHD7 (Q9P2D1)
P30R (p.Pro30Arg) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- gnomAD 8-60741521-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.20
- MetaLR 0.20
- MetaSVM -0.88
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.381
- Literature evidence available