S51P (p.Ser51Pro) variant of CNGA1 (P29973)
S51P (p.Ser51Pro) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S51P (p.Ser51Pro) variant details
- p.Ser51Pro
- TOPMed rs906420383
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.06
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available