P122A (p.Pro122Ala) variant of CNGA1 (P29973)
P122A (p.Pro122Ala) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
P122A (p.Pro122Ala) variant details
- p.Pro122Ala
- Ensembl rs868453867
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.04
- CADD 4.74
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available