P30S (p.Pro30Ser) variant of CHD7 (Q9P2D1)
P30S (p.Pro30Ser) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- gnomAD 8-60741520-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.14
- MetaLR 0.21
- MetaSVM -0.90
- CADD 22.30
- PolyPhen-2 0.97
- SIFT 0.13
- 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