G30S (p.Gly30Ser) variant of PTCH1 (Protein patched homolog 1)
G30S (p.Gly30Ser) in PTCH1 (Protein patched homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- gnomAD rs1843900330
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.27
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available