H36Q (p.His36Gln) variant of CSRP3 (P50461)
H36Q (p.His36Gln) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- gnomAD 11-19192341-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.35
- MetaLR 0.50
- MetaSVM -0.35
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available